ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6945C>G (p.His2315Gln)

gnomAD frequency: 0.00015  dbSNP: rs764686162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215175 SCV001386905 likely benign Kabuki syndrome 2023-12-07 criteria provided, single submitter clinical testing
GeneDx RCV002285458 SCV002575255 uncertain significance not provided 2022-09-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31925297)

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